A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy.
Macintosh J, Thiffault I, Pastinen T, Sztriha L, Bernard G. A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy. Child Neurol Open. 2023 Jan-Dec; 10:2329048X231176673.